Literature DB >> 5111762

Congenital chloride diarrhea, an autosomal recessive disease. Genetic study of 14 Finnish and 12 other families.

R Norio, J Perheentupa, K Launiala, N Hallman.   

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Year:  1971        PMID: 5111762

Source DB:  PubMed          Journal:  Clin Genet        ISSN: 0009-9163            Impact factor:   4.438


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  14 in total

1.  Congenital chloride diarrhoea.

Authors:  C C Shanthala; P P Maiya; N Benakappa; B K Sajeev
Journal:  Indian J Pediatr       Date:  1996 Mar-Apr       Impact factor: 1.967

Review 2.  The Finnish Disease Heritage III: the individual diseases.

Authors:  Reijo Norio
Journal:  Hum Genet       Date:  2003-03-08       Impact factor: 4.132

3.  Rare mutation in the SLC26A3 transporter causes life-long diarrhoea with metabolic alkalosis.

Authors:  Maen D Abou Ziki; Mohamud A Verjee
Journal:  BMJ Case Rep       Date:  2015-01-07

4.  Congenital chloride diarrhea needs to be distinguished from Bartter and Gitelman syndrome.

Authors:  Natsuki Matsunoshita; Kandai Nozu; Masahide Yoshikane; Azusa Kawaguchi; Naoya Fujita; Naoya Morisada; Shingo Ishimori; Tomohiko Yamamura; Shogo Minamikawa; Tomoko Horinouchi; Keita Nakanishi; Junya Fujimura; Takeshi Ninchoji; Ichiro Morioka; Hiroaki Nagase; Mariko Taniguchi-Ikeda; Hiroshi Kaito; Kazumoto Iijima
Journal:  J Hum Genet       Date:  2018-05-30       Impact factor: 3.172

5.  Fine mapping of the congenital chloride diarrhea gene by linkage disequilibrium.

Authors:  P Höglund; P Sistonen; R Norio; C Holmberg; A Dimberg; K H Gustavson; A de la Chapelle; J Kere
Journal:  Am J Hum Genet       Date:  1995-07       Impact factor: 11.025

6.  Congenital chloride diarrhea in Korean children: novel mutations and genetic characteristics.

Authors:  Jeana Hong; Jeong Kee Seo; Jae Sung Ko; Hae Il Cheong; Jung-Hwan Choi; Jae Hee Lee; Jeong Wan Seo
Journal:  Eur J Pediatr       Date:  2012-12-30       Impact factor: 3.183

7.  Colonic electrolyte transport in health and in congenital chloride diarrhea.

Authors:  C Holmberg; J Perheentupa; K Launiala
Journal:  J Clin Invest       Date:  1975-08       Impact factor: 14.808

8.  Congenital chloride diarrhoea. Clinical analysis of 21 Finnish patients.

Authors:  C Holmberg; J Perheentupa; K Launiala; N Hallman
Journal:  Arch Dis Child       Date:  1977-04       Impact factor: 3.791

9.  The gene for congenital chloride diarrhea maps close to but is distinct from the gene for cystic fibrosis transmembrane conductance regulator.

Authors:  J Kere; P Sistonen; C Holmberg; A de la Chapelle
Journal:  Proc Natl Acad Sci U S A       Date:  1993-11-15       Impact factor: 11.205

10.  Paternal isodisomy for chromosome 7 is compatible with normal growth and development in a patient with congenital chloride diarrhea.

Authors:  P Höglund; C Holmberg; A de la Chapelle; J Kere
Journal:  Am J Hum Genet       Date:  1994-10       Impact factor: 11.025

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